Gonçalo R. Abecasis

A global reference for human genetic variation

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...

Guidelines for investigating causality of sequence variants in human disease

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

Identifying the genetic variants that increase the risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a genome-wide association strategy, we genot...

The Sequence Alignment/Map format and SAMtools

Abstract Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads ...

The variant call format and VCFtools

Abstract Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with ...

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

GENOME: a rapid coalescent-based whole genome simulator

Abstract Summary: GENOME proposes a rapid coalescent-based approach to simulate whole genome data. In addition to features of standard coalescent simulators, the program allows ...

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Common variants at 30 loci contribute to polygenic dyslipidemia

An integrated map of genetic variation from 1,092 human genomes

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribu...

Demographic history and rare allele sharing among human populations

High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental h...

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of individuals and for identi...

A genome-wide association study of global gene expression